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DisGeNET
DisGeNET is a knowledge management platform that integrates and standardizes the data of genes and mutations related to diseases from multiple sources. It covers entire range of human disease.
| Source | Last Updated |
|---|---|
| DisGeNET | July 29, 2024 |
| Disease ID ▲ | Disease Name | Gene Symbol | Gene ID | Gene Name | UniProt ID |
|---|---|---|---|---|---|
| C0267952 | Fibrosis of pancreas | CYP2E1 | 1571 | cytochrome P450 family 2 subfamily E member 1 | P05181 |
| C0267952 | Fibrosis of pancreas | PRPS1 | 5631 | phosphoribosyl pyrophosphate synthetase 1 | P60891 |
| C0267952 | Fibrosis of pancreas | PTEN | 5728 | phosphatase and tensin homolog | P60484 |
| C0267963 | Exocrine pancreatic insufficiency | OGG1 | 4968 | 8-oxoguanine DNA glycosylase | O15527 |
| C0267963 | Exocrine pancreatic insufficiency | CEL | 1056 | carboxyl ester lipase | P19835 |
| C0267963 | Exocrine pancreatic insufficiency | CTNS | 1497 | cystinosin, lysosomal cystine transporter | O60931 |
| C0267963 | Exocrine pancreatic insufficiency | HPGDS | 27306 | hematopoietic prostaglandin D synthase | O60760 |
| C0267963 | Exocrine pancreatic insufficiency | HSD17B6 | 8630 | hydroxysteroid 17-beta dehydrogenase 6 | O14756 |
| C0267963 | Exocrine pancreatic insufficiency | ATP6AP1 | 537 | ATPase H+ transporting accessory protein 1 | Q15904 |
| C0268059 | Neonatal hemochromatosis | HJV | 148738 | hemojuvelin BMP co-receptor | Q6ZVN8 |
| C0268060 | Juvenile hemochromatosis | HJV | 148738 | hemojuvelin BMP co-receptor | Q6ZVN8 |
| C0268060 | Juvenile hemochromatosis | RGMB | 285704 | repulsive guidance molecule BMP co-receptor b | Q6NW40 |
| C0268060 | Juvenile hemochromatosis | RGMA | 56963 | repulsive guidance molecule BMP co-receptor a | Q96B86 |
| C0268095 | Keshan disease | PARP1 | 142 | poly(ADP-ribose) polymerase 1 | P09874 |
| C0268095 | Keshan disease | GAPDH | 2597 | glyceraldehyde-3-phosphate dehydrogenase | P04406 |
| C0268095 | Keshan disease | ACE | 1636 | angiotensin I converting enzyme | P12821 |
| C0268095 | Keshan disease | GPX1 | 2876 | glutathione peroxidase 1 | P07203 |
| C0268095 | Keshan disease | ICAM1 | 3383 | intercellular adhesion molecule 1 | P05362 |
| C0268095 | Keshan disease | IDH2 | 3418 | isocitrate dehydrogenase (NADP(+)) 2 | P48735 |
| C0268117 | Gout, HPRT-Related | HPRT1 | 3251 | hypoxanthine phosphoribosyltransferase 1 | P00492 |
| C0268117 | Gout, HPRT-Related | APRT | 353 | adenine phosphoribosyltransferase | P07741 |
| C0268119 | Combined molybdoflavoprotein enzyme deficiency | PNP | 4860 | purine nucleoside phosphorylase | P00491 |
| C0268119 | Combined molybdoflavoprotein enzyme deficiency | GLUL | 2752 | glutamate-ammonia ligase | P15104 |
| C0268120 | Adenine phosphoribosyltransferase deficiency | APRT | 353 | adenine phosphoribosyltransferase | P07741 |
| C0268120 | Adenine phosphoribosyltransferase deficiency | DLD | 1738 | dihydrolipoamide dehydrogenase | P09622 |
